Goerttler Philipp S, Steimle Cordula, März Edith, Johansson Peter L, Andreasson Björn, Griesshammer Martin, Gisslinger Heinz, Heimpel Hermann, Pahl Heike L
Department of Experimental Anaesthesiology, University Hospital Freiburg, Breisacher Str. 66, 79106 Freiburg, Germany.
Blood. 2005 Oct 15;106(8):2862-4. doi: 10.1182/blood-2005-04-1515. Epub 2005 Jun 28.
Recently, a Jak2V617F mutation has been described in the vast majority of patients with polycythemia vera (PV) as well as in subsets of patients with essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). The question arises whether this mutation is observed in those patients with ET and IMF who have also displayed previously described molecular markers, notably the ability to form endogenous erythroid colonies (EECs), overexpression of polycythemia rubra vera 1 (PRV-1), and decreased c-Mpl expression. We therefore analyzed the Janus kinase 2 (Jak2) DNA sequence, EEC growth, PRV-1 expression, and c-Mpl (myeloproliferative) levels in a cohort of 78 myeloproliferative disorder (MPD) patients (42 ET, 22 PV, and 14 IMF). Presence of the Jak2V617F mutation was very highly correlated with PRV-1 overexpression and the ability to form EECs in all 3 subtypes of MPDs (P < .001). (
最近，在绝大多数真性红细胞增多症（PV）患者以及部分原发性血小板增多症（ET）和原发性骨髓纤维化（IMF）患者中发现了Jak2V617F突变。问题在于，在那些ET和IMF患者中，若他们之前还表现出已描述的分子标志物，尤其是形成内源性红系集落（EEC）的能力、真性红细胞增多症1（PRV-1）的过表达以及c-Mpl表达降低，是否也能观察到这种突变。因此，我们分析了78例骨髓增殖性疾病（MPD）患者（42例ET、22例PV和14例IMF）队列中的Janus激酶2（Jak2）DNA序列、EEC生长、PRV-1表达以及c-Mpl（骨髓增殖性）水平。Jak2V617F突变的存在与所有3种MPD亚型中的PRV-1过表达以及形成EEC的能力高度相关（P <.001）。
Zotero 插件